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Article

Congenital diaphragmatic hernia associated with duplication of 11q23-qter.

American journal of medical genetics. Part A - 15 Jul 2006

Klaassens M, Scott D A, van Dooren M, Hochstenbach R, Eussen H J, Cai W W, Galjaard R J, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a relatively common birth defect with a high mortality. Although little is known about its etiology, there is increasing evidence for a strong genetic contribution. Both numerical and structural chromosomal abnormalities have been described in patients with CDH. Partial trisomy 11q and partial trisomy 22 associated with the common t(11;22) has been reported in several...

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Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 12

Share to Hernia, Diaphragmatic

Share to Hernias, Diaphragmatic, Congenital

Share to In Situ Hybridization, Fluorescence

Share to Translocation, Genetic

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Source

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Identifiers

PMID: 16770801
DOI: 10.1002/ajmg.a.31321
PMCID: PMC1550781

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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